ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828304821
Gene: APTX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1807152
ClinVar RCV Id:
RCV002475109
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001355928.1:p.Gly240Val
CA373176969
NM_001368999.1:c.719G>T